keratosis palmoplantaris striata 1

Summary
Definition
A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12.
Super Class
autosomal dominant disease keratosis palmoplantaris striata
Disease Ontology
DOID:0081108
Mondo Disease Ontology
MeSH
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1828 DSG1 desmoglein 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q02413 Desmoglein-1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025